Canonical Allele Identifier: CA869302774

Gene: BTK

Linked Data

• dbSNP Id: rs1447543003
• gnomAD v3: X-101350670-T-C
• gnomAD v4: X-101350670-T-C
• MyVariant Identifiers: chrX:g.101350670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101350670T>C , CM000685.2:g.101350670T>C	GRCh38
NC_000023.10:g.100605658T>C , CM000685.1:g.100605658T>C	GRCh37
NC_000023.9:g.100492314T>C	NCBI36
NG_009616.1:g.40555A>G , LRG_128:g.40555A>G
NG_011734.1:g.3300A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478995.2:n.3426-714A>G
ENST00000488970.2:n.4065-714A>G
ENST00000695614.1:c.1909-714A>G	ENSP00000512053.1:n.1909-714A>G
ENST00000695615.1:c.1909-714A>G	ENSP00000512054.1:n.1909-714A>G
ENST00000695616.1:c.*1754-714A>G	ENSP00000512055.1:n.*1754-714A>G
ENST00000695617.1:c.1906-714A>G	ENSP00000512056.1:n.1906-714A>G
ENST00000695618.1:c.*1658-714A>G	ENSP00000512058.1:n.*1658-714A>G
ENST00000695619.1:c.*1619-714A>G	ENSP00000512059.1:n.*1619-714A>G
ENST00000695620.1:c.*1835-714A>G	ENSP00000512060.1:n.*1835-714A>G
ENST00000695621.1:c.*334-714A>G	ENSP00000512061.1:n.*334-714A>G
ENST00000695622.1:c.1846-714A>G	ENSP00000512062.1:n.1846-714A>G
ENST00000695623.1:c.1903-714A>G	ENSP00000512063.1:n.1903-714A>G
ENST00000695624.1:n.1214-714A>G
ENST00000695625.1:c.1876-714A>G	ENSP00000512064.1:n.1876-714A>G
ENST00000695626.1:c.664-714A>G	ENSP00000512065.1:n.664-714A>G
ENST00000695627.1:c.857-714A>G	ENSP00000512066.1:n.857-714A>G
ENST00000695628.1:c.468-714A>G	ENSP00000512067.1:n.468-714A>G
ENST00000695629.1:c.349-714A>G	ENSP00000512068.1:n.349-714A>G
ENST00000695630.1:c.636-714A>G
ENST00000695631.1:c.170-714A>G
ENST00000703407.1:c.1381-714A>G	ENSP00000512057.1:n.1381-714A>G
ENST00000308731.8:c.1909-714A>G MANE Select	ENSP00000308176.8:n.1909-714A>G
ENST00000308731.7:c.1909-714A>G	ENSP00000308176.7:n.1909-714A>G
ENST00000372880.5:c.1381-714A>G	ENSP00000361971.1:n.1381-714A>G
ENST00000618050.4:c.1908-714A>G	ENSP00000479125.1:n.1908-714A>G
ENST00000621635.4:c.2011-714A>G	ENSP00000483570.1:n.2011-714A>G
NM_000061.2:c.1909-714A>G , LRG_128t1:c.1909-714A>G	NP_000052.1:n.1909-714A>G
NM_001287344.1:c.2011-714A>G	NP_001274273.1:n.2011-714A>G
NM_001287345.1:c.1381-714A>G	NP_001274274.1:n.1381-714A>G
NM_000061.3:c.1909-714A>G MANE Select	NP_000052.1:n.1909-714A>G
NM_001287344.2:c.2011-714A>G	NP_001274273.1:n.2011-714A>G
NM_001287345.2:c.1381-714A>G	NP_001274274.1:n.1381-714A>G